Gene >> FGF3
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000334134 |
| Start |
69810483:69810483(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs782147248
|
| CDS Mutation |
c.542G>A |
| AA Mutation |
p.Arg181His(p.R181H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000334134 |
| Start |
69816358:69816358(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs782535318
|
| CDS Mutation |
c.286T>C |
| AA Mutation |
p.Tyr96His(p.Y96H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |